Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation.
第一作者:
K,Shinoda
第一单位:
Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan. shinodak@med.keio.ac.jp
作者:
医学主题词
青少年(Adolescent);成年人(Adult);印迹法, DNA(Blotting, Southern);儿童(Child);儿童, 学龄前(Child, Preschool);视网膜电描记术(Electroretinography);眼蛋白质类(Eye Proteins);眼底(Fundus Oculi);基因连锁(Genetic Linkage);基因型(Genotype);人类(Humans);婴儿(Infant);日本(Japan);男(雄)性(Male);突变(Mutation);表型(Phenotype);视网膜(Retina);视网膜变性(Retinal Degeneration);回顾性研究(Retrospective Studies);视敏度(Visual Acuity);X染色体(X Chromosome)
PMID
11035549
发布时间
2022-03-31
- 浏览4
Ophthalmic genetics
171-80页
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